A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2236652



Internal ID2627570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103463081..103463387hg19UCSC Ensembl
Outerchr7:103462877..103463603hg19UCSC Ensembl
Innerchr7:103250317..103250623hg18UCSC Ensembl
Outerchr7:103250113..103250839hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4580468
SamplesNA18507
Known GenesRELN
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2236652
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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